Laryngeal neurofibroma: case report and review of the literature

Background: Laryngeal neurofibromatosis (LNF) represents an exceedingly rare manifestation of neurofibromatosis type 1 (NF1), a genetic disorder affecting neural tissue development with an incidence of approximately 1:3000 live births. While NF1 typically presents with cutaneous neurofibromas, laryngeal involvement is exceptional. Methods: A case of LNF associated with NF1 diagnosed at West China Hospital is presented, accompanied by a comprehensive literature review. A 21-year-old female presented with progressive hoarseness over two years. Diagnostic evaluation included physical examination revealing café-au-lait macules and laryngeal submucosal swelling, and computed tomography (CT) identifying a hypodense parapharyngeal space nodule. The patient underwent microlaryngoscopic excision of the mass. Histopathological examination and genetic analysis were performed. Results: Histopathology confirmed the mass as a neurofibroma. Genetic analysis identified a pathogenic NF1 gene mutation. Microlaryngoscopic excision was successful, achieving complete removal with minimal intraoperative bleeding and no vocal cord damage, resulting in a favorable postoperative outcome. Conclusions: This case details the successful diagnosis and management of rare laryngeal neurofibromatosis, confirming microlaryngoscopic excision as an effective approach. The integrated literature review synthesizes current understanding of this rare entity.